Varaico: Literature-Extracted Genetic Variants

POLD1

951 papers

RefSeq Summary

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication a...

Pfam Domains

POL3_Naa 143–221UCSCDNA polymerase delta catalytic subunit-like, N-terminal domain

DNA_pol_B_exo1aa 241–477UCSCDNA polymerase family B, exonuclease domain

DNA_pol_Baa 541–595UCSCDNA polymerase family B

DNA_pol_Baa 541–973UCSCDNA polymerase family B

zf-C4polaa 1012–1082UCSCC4-type zinc-finger of DNA polymerase delta

Gene Aliases

HGNC Name

DNA polymerase delta 1, catalytic subunit

HGNC Previous Names

polymerase (DNA directed), delta 1, catalytic subunit (125kD); polymerase (DNA) delta 1, catalytic subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002691.4

p.Y472H

c.1414T>C

Surrounding Variants

1 paper

NM_002691.4

p.S471F

c.1412C>T

5 papers

NM_002691.4

p.T473M

c.1418C>T

1 paper

NM_002691.4

p.L474I

c.1420C>A

3 papers

NM_002691.4

p.R470C

c.1408C>T

43 papers

NM_002691.4

p.L474P

c.1421T>C

1 paper

NM_002691.4

p.K468R

c.1403A>G

1 paper

NM_002691.4

p.N475K

c.1425T>A

1 paper

NM_002691.4

p.N475K

c.1425T>G

7 papers

NM_002691.4

p.V477M

c.1429G>A

1 paper

NM_002691.4

p.V477_S478delFs

c.1431_1432delGA

2 papers

NM_002691.4

p.S478R

c.1432A>C

112 papers

NM_002691.4

p.S478N

c.1433G>A